Pompe DiseaseNCT01758354
Newborn Screening Assay of Pompe's Disease
A study testing Pompe disease newborn screening in people with Pompe Disease, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Pompe Disease
- What is being tested?
- Pompe disease newborn screening
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 236,536 participants
- Where
- 1 siteTaiwan
- Study dates
- Sep 2005to Dec 2009
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
- parents signed inform consent for this study
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
Read the detailed description
DBS from newborn will be tested for acid alpha-glucosidase (GAA) activity. Babies with low GAA activity will be confirmed for Pompe disease.
- Conditions
- Pompe Disease
- Being tested
- Pompe disease newborn screening
- Keywords
- Pompe disease, alpha glucosidase deficiency
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pompe disease newborn screeningOther
DBS will be tested for acid alpha-glucosidase (GAA)activity. Newborns with low GAA activity will received a confirmatory blood sampling and clinical evaluation for the presence of cardiomyopathy.
| Study group | Role | What they receive |
|---|---|---|
| Pompe disease newborn screening | Experimental | newborns will be tested if they were affected by Pompe disease Receives: Other: Pompe disease newborn screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
detect patients with infantile onset Pompe disease
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Jan 2013 (estimated)
- Study startSep 2005
- Primary completionDec 2009
- Study completionDec 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 236,536 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Whu-Liang Hwu, MD, PhD, Principal investigator, National Taiwan University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01758354
- Sponsor's protocol ID
- 9461700818
- Status last verified
- Nov 2012
- First submitted
- 9 Jul 2008
- Last updated
- 1 Jan 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Jan 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Newborn Screening Assay of Pompe's Disease
- ClinicalTrials.gov ID
- NCT01758354
- Acronym / sponsor ID
- 9461700818
- Conditions
- Pompe Disease
- Keywords
- Pompe disease, alpha glucosidase deficiency
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 236,536 participants (actual)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- Sep 2005
- Primary completion
- Dec 2009 (actual)
- Study completion
- Dec 2009 (actual)
- First posted
- 1 Jan 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
Detailed description
DBS from newborn will be tested for acid alpha-glucosidase (GAA) activity. Babies with low GAA activity will be confirmed for Pompe disease.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pompe disease newborn screening | Experimental | Other: Pompe disease newborn screeningnewborns will be tested if they were affected by Pompe disease |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
- parents signed inform consent for this study
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Pompe disease newborn screeningDBS will be tested for acid alpha-glucosidase (GAA)activity. Newborns with low GAA activity will received a confirmatory blood sampling and clinical evaluation for the presence of cardiomyopathy. | Other | Pompe disease newborn screening |
Primary outcome
detect patients with infantile onset Pompe disease
Time frame: 3 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Jan 2013.
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Pompe Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Whu-Liang Hwu, MD, PhD principal investigator
National Taiwan University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Pompe disease newborn screening in people with Pompe Disease, run by National Taiwan University Hospital at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Jan 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
detect patients with infantile onset Pompe disease (time frame: 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Jan 2013.